ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+30G>A

gnomAD frequency: 0.00003  dbSNP: rs369058711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418030 SCV000516005 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001324557 SCV001515513 uncertain significance Brugada syndrome 5 2023-08-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 379275). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 160 of the SCN1B protein (p.Val160Ile). This variant is present in population databases (rs369058711, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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